Molecular Medicine Flashcards
How does indirect detection function?
follow the inheritance of a marker closely tied to a mutated allele
WES?
whole exome sequencing
WGS?
whole genome sequencing
Can sequencing differentiate between maternal and paternal chromosomes?
no
CNV?
copy number variation
What are the two techniques used to detect copy number variations?
comparative genome hybridization and FISH
ASO?
allele specific oligonucleotide
What are ASOs used to detect?
SNPs and mutations
What is the most common gene to be mutated to produce sickle cell anemia?
beta-globin
Malignant hyperthermia syndrome features what defective protein?
ryanodine receptor
What are the two sources of DNA for prenatal screening?
amniotic fluid and chorionic villus
What two bills (laws) protect against genetic discrimination?
HIPPA and GINA
What cells produce antibodies?
B-lymphocytes
What are polyclonal antibodies?
recognize multiple epiitopes of an antigen
A hybridoma cell line consists of a fusion of what two cell types?
myeloma and B-lymphocyte
What is the function of ELISA?
to detect and quantify antigens in vitro
What three proteins are often detected in ELISA?
PTH, Hba1C, CRP
An indirect ELISA is used to detect the presense of what?
antibodies
Indirect ELISA is used to detect which two diseases?
HIV and autoimmune diseases
Rheumatoid arthritis is an autoimmune disease against what?
IgG
What is CNV?
copy number variation
What two techniques are used to detect CNVs?
comparative genome hybridization and FISH
How does FISH identify CNVs?
fluorescent probe
What are ASOs?
allele specific oligonucleotides
What are ASOs used to specifically identify?
SNPs
Malignant hyperthermia features what defective protein?
ryanodine receptor
What two drugs can exacerbate malignant hyperthermia?
halothane and succinyl choline
What is the mechanism of action for warfarin?
Vitamin K epoxide reductase
What enzyme degrades warfarin?
CYP2C9
What happens to warfarin levels with a mutation in CYP2C9?
levels rise
What cell produces antibodies?
B-cells
What is a sandwich ELISA used to quantify?
antigens
A sandwich ELISA is used to quantify which three human proteins?
PTH, CRP, HbA1c
What is an indirect ELISA used to quantify?
antibodies
What size of fragment does CGH detect?
kilo to mega base range
Does prenatal screening carry a risk of spontaneous abortion?
yes. 2-3%
